Variant report

Variant	rs6489782
Chromosome Location	chr12:121247491-121247492
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121240989..121243362-chr12:121247289..121249209,3	K562	blood:
2	chr12:121238531..121240722-chr12:121246425..121248105,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10160872	0.83[ASN][1000 genomes]
rs1027556	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1039302	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10431387	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10437838	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10744754	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10774568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774569	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10774571	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10774573	0.83[ASN][1000 genomes]
rs10849786	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849787	0.83[ASN][1000 genomes]
rs10849788	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10849790	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10849793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849800	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10849805	0.85[ASN][1000 genomes]
rs10849806	0.85[ASN][1000 genomes]
rs10849810	1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.86[ASN][1000 genomes]
rs10849811	1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs10849813	0.83[ASN][1000 genomes]
rs11065259	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065272	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065298	1.00[CHB][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs11065319	0.83[ASN][1000 genomes]
rs11065320	0.83[ASN][1000 genomes]
rs11065321	0.82[ASN][1000 genomes]
rs11065322	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs1151849	0.82[YRI][hapmap]
rs1151862	0.82[YRI][hapmap]
rs11833706	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2049211	0.85[ASN][1000 genomes]
rs2393718	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2393725	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3213568	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3213571	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3809314	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.89[LWK][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs471688	0.82[YRI][hapmap]
rs531782	0.89[YRI][hapmap]
rs56161401	0.83[ASN][1000 genomes]
rs610694	0.82[YRI][hapmap]
rs624216	0.82[YRI][hapmap]
rs625228	0.89[YRI][hapmap]
rs6489780	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6489781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135147	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135426	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7139145	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs715319	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7298639	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs7300695	0.83[ASN][1000 genomes]
rs7315439	0.85[ASN][1000 genomes]
rs7316450	0.83[ASN][1000 genomes]
rs73229114	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7960784	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7965332	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7977343	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121211400-121260800	Weak transcription	Gastric	stomach
2	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:121222200-121274000	Weak transcription	Lung	lung
5	chr12:121222600-121249200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:121222600-121259000	Weak transcription	Ovary	ovary
7	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
8	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
9	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:121222800-121249400	Weak transcription	HSMM	muscle
11	chr12:121230000-121255200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:121234000-121264200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:121234600-121250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:121234600-121263000	Weak transcription	A549	lung
15	chr12:121234800-121250600	Weak transcription	Fetal Brain Female	brain
16	chr12:121235000-121249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:121236400-121259000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:121237000-121255400	Weak transcription	Fetal Heart	heart
19	chr12:121237400-121249000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:121237600-121252000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:121237600-121252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:121237800-121253200	Weak transcription	K562	blood
23	chr12:121237800-121253400	Weak transcription	Psoas Muscle	Psoas
24	chr12:121237800-121255600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:121238000-121248400	Weak transcription	Brain Angular Gyrus	brain
26	chr12:121238000-121249400	Weak transcription	HSMMtube	muscle
27	chr12:121238800-121247600	Weak transcription	Fetal Intestine Large	intestine
28	chr12:121238800-121250200	Weak transcription	NH-A	brain
29	chr12:121239000-121249000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:121239200-121251000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:121239200-121252600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:121239200-121252800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:121239200-121255000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:121239200-121260600	Weak transcription	Right Atrium	heart
35	chr12:121239400-121249200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:121239400-121250200	Weak transcription	NHEK	skin
37	chr12:121239400-121253000	Weak transcription	Fetal Kidney	kidney
38	chr12:121239400-121255200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:121239600-121249000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:121239600-121255200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:121239800-121255200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:121240000-121252800	Weak transcription	Fetal Lung	lung
43	chr12:121240600-121248600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:121240800-121250400	Weak transcription	HepG2	liver
45	chr12:121240800-121260800	Weak transcription	Small Intestine	intestine
46	chr12:121241000-121252000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:121241000-121261200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:121241200-121249200	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:121241200-121252000	Weak transcription	HUVEC	blood vessel
50	chr12:121241200-121258400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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